A three-year-old girl from Redland Bay has been diagnosed with a rare chronic brain disease, but her condition could be far worse if her mother had not trusted her instinct.
Michaela Antonelli said she had often “second-guessed herself” since Lilly’s symptoms started about a year ago.
Many of the symptoms could have been attributed to something else.
The disease, chiari malformation, is rare, especially in children, and very difficult to diagnose.
Lilly also has a linked condition, syringomyelia, which is a cyst along the spinal cord.
“If I hadn’t taken her to hospital when I did she might have been in a wheelchair, paralysed,” said Mrs Antonelli.
Among Lilly’s symptoms were behavioural-type issues.
“She was irritable, short-tempered and very emotional.
“She would run riot, screaming and shouting, which was her way of dealing with the pain,” Mrs Antonelli said.
In the weeks before the diagnosis in October, Lilly had increasingly regular headaches that became so severe she could not sleep.
“Every night she would say ‘my head hurts, make it stop’.
“The headaches would be so bad that she would bash her head against the wall,” said Mrs Antonelli.
On October 2, they took Lilly to Lady Cilento Children’s Hospital where she was subsequently given an MRI.
Within a few days the family received the diagnosis and part of Lilly’s skull was removed during her first surgery on October 27.
This was followed by another five operations over the same number of weeks, with the treatment hampered by a meningitis infection between surgeries.
During one operation Lilly had a ventriculoperitoneal shunt inserted to drain the fluid around the brain.
She still suffers some pain, but has been back to her previous self since her discharge from hospital.
Lilly’s stay in hospital took its toll on the family.
Her father James stayed home with Lilly’s sisters, 18-month-old Nancy and six-year-old Alisha.
Mrs Antonelli said support had come from family, friends and her mother’s group who fundraised to help with Lilly’s expenses and enable James to take time off work.
Her kindergarten Grasshoppers Early Learning Centre also did a collection of gift cards and fuel vouchers and helped with emergency care for Nancy and Alisha.
Lilly’s condition cannot be cured and so much of the future is unknown because every case is different.
But knowing that her daughter will have to live with it and be required to wear the shunt for the rest of her life is “extremely overwhelming”, said Mrs Antonelli.
She has not had time to process the situation for herself.
“Everything was so full on at the hospital.
“She was diagnosed, had six surgeries and came home in eight weeks so I have not had time to sit and take it all in,” she said.
An Australian support group for anyone with chairi malformation is on Facebook at www.facebook.com/groups/Chiari.SyringomyeliaAustralia.
Anyone who would like to assist Lilly can do so through www.gofundme.com/lilly3
